Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

We estimated the genome-wide contribution of recessive coding variation in 6040 families
from the Deciphering Developmental Disorders study. The proportion of cases attributable to …

Cell excitability and its modulation by hormones and neurotransmitters involve the concerted
action of a large repertoire of membrane proteins, especially ion channels. Unique …

Mutations in the genes encoding the mechanosensitive cation channels PIEZO1 and
PIEZO2 are responsible for multiple hereditary human diseases. Loss-of-function mutations …

Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-
dominant condition caused by mutations in MYH3 and characterized by multiple congenital …

Ion channels are crucial components of cellular excitability and are involved in many
neurological diseases. This review focuses on the sodium leak, G protein-coupled receptors …

The sodium leak channel (NALCN) is essential for survival in mammals: NALCN mutations
are life-threatening in humans and knockout is lethal in mice. However, the basic functional …

Precision medicine strives for highly individualized treatments for disease under the notion
that each individual's unique genetic makeup and environmental exposures imprints upon …